ClinVar Miner

Submissions for variant NC_012920.1(MT-CO1):m.7222A>G

dbSNP: rs1603220834
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854042 SCV000997075 likely pathogenic Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.7222A>G (YP_003024028.1:p.Tyr440Cys) variant in MTCO1 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM2, PM8, PM9, PP3, PP4, PP6

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